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Biallelic truncating variants in PACSIN3 cause childhood-onset myopathy with hyperCKaemia.
Distelmaier F, Sezer A, Helm C, Waldmüller S, Seibt A, Gangfuß A, Kölbel H, Schara-Schmidt U, Yuksel D, Talim B, Mayatepek E, Nikolin S, Weis J, Roos A, Haack TB. Distelmaier F, et al. Among authors: roos a. Brain. 2024 Apr 18:awae099. doi: 10.1093/brain/awae099. Online ahead of print. Brain. 2024. PMID: 38637313 No abstract available.
Novel FHL1 mutation in a family with reducing body myopathy.
Schreckenbach T, Henn W, Kress W, Roos A, Maschke M, Feiden W, Dillmann U, Schulz JB, Weis J, Claeys KG. Schreckenbach T, et al. Among authors: roos a. Muscle Nerve. 2013 Jan;47(1):127-34. doi: 10.1002/mus.23500. Epub 2012 Nov 21. Muscle Nerve. 2013. PMID: 23169582
SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndrome.
Krieger M, Roos A, Stendel C, Claeys KG, Sonmez FM, Baudis M, Bauer P, Bornemann A, de Goede C, Dufke A, Finkel RS, Goebel HH, Häussler M, Kingston H, Kirschner J, Medne L, Muschke P, Rivier F, Rudnik-Schöneborn S, Spengler S, Inzana F, Stanzial F, Benedicenti F, Synofzik M, Lia Taratuto A, Pirra L, Tay SK, Topaloglu H, Uyanik G, Wand D, Williams D, Zerres K, Weis J, Senderek J. Krieger M, et al. Among authors: roos a. Brain. 2013 Dec;136(Pt 12):3634-44. doi: 10.1093/brain/awt283. Epub 2013 Oct 30. Brain. 2013. PMID: 24176978 Free article.
Muscle Pathology as a Diagnostic Clue to Allgrove Syndrome.
Reimann J, Kohlschmidt N, Tolksdorf K, Weis J, Kuchelmeister K, Roos A. Reimann J, et al. Among authors: roos a. J Neuropathol Exp Neurol. 2017 May 1;76(5):337-341. doi: 10.1093/jnen/nlx016. J Neuropathol Exp Neurol. 2017. PMID: 28371804
GFPT1 deficiency in muscle leads to myasthenia and myopathy in mice.
Issop Y, Hathazi D, Khan MM, Rudolf R, Weis J, Spendiff S, Slater CR, Roos A, Lochmüller H. Issop Y, et al. Among authors: roos a. Hum Mol Genet. 2018 Sep 15;27(18):3218-3232. doi: 10.1093/hmg/ddy225. Hum Mol Genet. 2018. PMID: 29905857 Free PMC article.
1,632 results